Results 51 to 60 of about 1,973 (193)

Individual heat map assessments demonstrate vestronidase alfa treatment response in a highly heterogeneous mucopolysaccharidosis VII study population. [PDF]

, 2019
Mucopolysaccharidosis (MPS) VII is an ultra-rare, progressively debilitating, life-threatening lysosomal disease caused by deficiency of the enzyme, β-glucuronidase. Vestronidase alfa is an approved enzyme replacement therapy for MPS VII. UX003-CL301 was
Bauer, Mislen, Chen, Chao-Yin, Cimms, Tricia, Haller, Christine, Harmatz, Paul, Song, Wenjie, Wang, Raymond Y, Whitley, Chester B   +7 more
core   +1 more source

Phenotypic expansion of ARSK‐related mucopolysaccharidosis

, 2022
American Journal of Medical Genetics Part A, Volume 188, Issue 11, Page 3369-3373, November 2022.
Cecilie F. Rustad, Trine E. Prescott, Else Merckoll, Erle Kristensen, Cathrin L. Salvador, Hilde Nordgarden, Kristian Tveten   +6 more
wiley   +1 more source

Home infusion with Elosulfase alpha (VimizimR) in a UK Paediatric setting

Molecular Genetics and Metabolism Reports, 2018
Enzyme replacement therapy is the only available treatment for Mucopolysaccharidosis type IVA (MPS IVA, Morquio syndrome). The treatment is lengthy and invasive involving weekly intravenous infusions of 4–5 h.
Niamh Finnigan, Jane Roberts, Jean Mercer, Simon A. Jones   +3 more
doaj   +1 more source

Immune-Mediated Inflammation May Contribute to the Pathogenesis of Cardiovascular Disease in Mucopolysaccharidosis Type I. [PDF]

, 2016
BackgroundCardiovascular disease, a progressive manifestation of α-L-iduronidase deficiency or mucopolysaccharidosis type I, continues in patients both untreated and treated with hematopoietic stem cell transplantation or intravenous enzyme replacement ...
Dickson, Patricia I, Ellinwood, N Matthew, Esko, Jeffrey D, Gordts, Philip L, Khalid, Omar, Schwartz, Philip H, Vera, Moin U, Wang, Raymond Y   +7 more
core   +3 more sources

Safety and physiological effects of two different doses of elosulfase alfa in patients with morquio a syndrome: A randomized, double-blind, pilot study. [PDF]

, 2015
The primary treatment outcomes of a phase 2, randomized, double-blind, pilot study evaluating safety, physiological, and pharmacological effects of elosulfase alfa in patients with Morquio A syndrome are herewith presented.
Berger, Kenneth I, Burton, Barbara K, Genter, Fred, Harmatz, Paul, Jones, Simon A, Lau, Heather, Lewis, Gregory D, Mitchell, John J, Muschol, Nicole, Pastores, Gregory M, Shaywitz, Adam J, Sparkes, Rebecca, Sutton, V Reid, Tarnopolsky, Mark, Treadwell, Marsha   +14 more
core   +1 more source

Elosulfase alfa for mucopolysaccharidosis type IVA

, 2018
There is a growing interest in evaluating the effectiveness of enzyme replacement therapy (ERT) with elosulfase alfa in patients with mucopolysaccharidosis type IVA (MPS-IVA) under real-world conditions. We present the experience of seven pediatric MPS-IVA patients from the Spanish Morquio-A Early Access Program.
Pintos-Morell, Guillem, Blasco Alonso, Javier, Couce, María L., Gutiérrez-Solana, Luís G., Guillén-Navarro, Encarna, O'Callaghan, Mar, del Toro, Mireia, Universitat Autònoma de Barcelona   +7 more
openaire   +2 more sources

Assessment and management of over-activity and sleep disorder in mucopolysaccharidoses [PDF]

, 2018
There is a growing awareness, based on both research and clinical studies, that abnormal sleep and circadian functioning are associated with the various forms of mucopolysaccharidoses (MPS), with sleep respiratory problems seemingly common in many forms ...
Hare, Dougal, Mahon, Louise, Rust, Stewart   +2 more
core   +2 more sources

Enzyme replacement therapy for treating mucopolysaccharidosis type IVA (Morquio A syndrome): effect and limitations. [PDF]

Expert Opin Orphan Drugs, 2015
Following a Phase III, randomized, double-blind, placebo (PBO)-controlled, multinational study in subjects with mucopolysaccharidosis IVA (MPS IVA), enzyme replacement therapy (ERT) of elosulfase alfa has been approved in several countries. The study was designed to evaluate safety and efficacy of elosulfase alfa in patients with MPS IVA aged 5 years ...
Tomatsu S, Sawamoto K, Shimada T, Bober MB, Kubaski F, Yasuda E, Mason RW, Khan S, Alméciga-Díaz CJ, Barrera LA, Mackenzie WG, Orii T.   +11 more
europepmc   +4 more sources

Neonatal umbilical cord blood transplantation halts skeletal disease progression in the murine model of MPS-I [PDF]

, 2017
Umbilical cord blood (UCB) is a promising source of stem cells to use in early haematopoietic stem cell transplantation (HSCT) approaches for several genetic diseases that can be diagnosed at birth.
A Oikawa, A Pievani, A Pievani, A Scaradavou, AE Willing, B Sacchetti, C Davenport, C Schulte, CM Simonaro, DC Mendez, DE Harrison, DE Harrison, DJ Rowan, DK Kim, DL Selle, DT Harris, F Gatto, F Kubaski, F Migishima, FL Wilkinson, HE Broxmeyer, J Palis, JJ Boelens, K Ohmi, K Uchida, K Uchida, KK Ballen, L Lu, LA Clarke, LA Clarke, M Aldenhoven, M Aldenhoven, M Aldenhoven, M Aldenhoven, M Beck, M Schmidt, ME Bernardo, MF Garcia-Rivera, O Levy, S Coşkun, S Garbuzova-Davis, S Jayaraman, S Tomatsu, S Tomatsu, S Tomatsu, SC Kuehn, SH Boyer, SJ Morrison, SL Staba, VK Prasad, VK Prasad, W Chuan, XY Zhong, Y Zheng, ZY Li   +54 more
core   +2 more sources

Delivery and assessment of a CRISPR/nCas9-based genome editing system on in vitro models of mucopolysaccharidoses IVA assisted by magnetite-based nanoparticles

Scientific Reports, 2022
Mucopolysaccharidosis IV A (MPS IVA) is a lysosomal disorder caused by mutations in the GALNS gene. Consequently, the glycosaminoglycans (GAGs) keratan sulfate and chondroitin 6-sulfate accumulate in the lysosomal lumen.
Andrés Felipe Leal, Javier Cifuentes, Carlos Emilio Torres, Diego Suárez, Valentina Quezada, Saúl Camilo Gómez, Juan C. Cruz, Luis H. Reyes, Angela Johana Espejo-Mojica, Carlos Javier Alméciga-Díaz   +9 more
doaj   +1 more source